Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Limb shortening because of underdevelopment of one or more bones of the extremities.

In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.

A severe delay in the achievement of motor or mental milestones in the domains of development of a child.

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Reduced rib length.

A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.

Abnormal widening of the metaphyseal regions of long bones.

One or more abnormally short long bone.

Anterior tongue-like protrusions of the vertebral bodies.

A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.

An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.

A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.

Respiratory difficulty as newborn.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

A reduction of corneal clarity.

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).